The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

Haploinsufficiency of Progranulin (PGRN), a gene encoding a secreted glycoprotein, is a major cause of frontotemporal lobar degeneration with ubiquitin (FTLD-U) positive inclusions. Single nucleotide polymorphisms in the TMEM106B gene were recently discovered as a risk factor for FTLD-U, especially...

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Veröffentlicht in:	Human molecular genetics 2013-02, Vol.22 (4), p.685-695
Hauptverfasser:	Brady, Owen A, Zheng, Yanqiu, Murphy, Kira, Huang, Marshall, Hu, Fenghua
Format:	Artikel
Sprache:	eng
Schlagworte:	Endosomes - metabolism Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Frontotemporal Dementia - pathology HEK293 Cells Humans Intercellular Signaling Peptides and Proteins - genetics Intercellular Signaling Peptides and Proteins - metabolism Lysosomal Membrane Proteins - metabolism Lysosomes - metabolism Lysosomes - pathology Membrane Proteins - genetics Membrane Proteins - metabolism Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neurons - metabolism Neurons - pathology Organelle Shape Progranulins Protein Transport Proteolysis Risk Factors Vacuoles - metabolism
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